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Laboratory Services at the Center for Medical Genetics

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The laboratories serving the Center for Medical Genetics and Genomics take pride in offering a broad array of genetic laboratory services — from pre-conception, pregnancy, newborn, and throughout childhood and adulthood  that meet the clinical needs of our patients while maintaining quality at the highest level. All within the trusted walls of UPMC.

All our laboratories are staffed with ABMGG-certified lab directors and genetic counselors and are accredited by ABMGG for the training of Laboratory Genetics and Genomics Fellows. Each laboratory is successfully accredited by Clinical Laboratory Improvement Amendments (CLIA) and the College of American Pathologists (CAP) and licensed by the Commonwealth of Pennsylvania Department of Health.

The UPMC Cytogenetic Laboratory (UCL)

Cytogenetic studies are often ordered by healthcare providers to answer diagnostic and/or prognostic questions that are then used to tailor treatment or management plans for their patients. Reasons for cytogenetic testing are broad and diverse, with the more common being prenatal diagnosis to look for causes of birth defects and/or intellectual disability in childhood, to explore the cause of infertility or pregnancy loss, and to diagnose and/or monitor hematologic/oncologic disorders such as leukemia or lymphoma.

Using both traditional cytogenetic techniques as well as molecular cytogenetics by fluorescence in situ hybridization (FISH) and genome-wide array comparative genomic hybridization (aCGH), the UPMC Cytogenetic Laboratory (UCL) performs chromosome studies on a wide variety of specimens, giving our referring physicians the best opportunity to get the answers they need.

Specimen Types

  • Amniotic fluid
  • Chorionic villi
  • Peripheral blood
  • Tissue (products of conception)
  • Bone marrow
  • Tumor

Fluorescent in situ hybridization (FISH)

  • Aneuploidy
  • HER2-Neu (breast cancer)
  • Microdeletion syndromes
  • Subtelomere studies
  • Oncology probes/panels
  • Micro array CGH (send-out)

Requisition forms

The UPMC Pregnancy Screening Laboratory (UPSL)

The UPMC Pregnancy Screening Laboratory (UPSL) offers state-of-the-art testing for identifying pregnancies at increased risk for chromosome conditions such as Down syndrome (trisomy 21) or trisomy 18, and open neural tube defects, such as spina bifida or anencephaly.

The UPSL offers screening tests in both the first and second trimester of pregnancy. These pregnancy screens differ from diagnostic tests, as screening tests show if a person’s risk is high or low for a specific disease or condition.

Our experienced staff takes great care in interpreting the results of testing and communicating these results to the referring physician. In the event of a positive screening test (increased risk), our genetic counselors are available to discuss the decision to have further testing with the patient and their partner. This decision should be based on several factors, including the risk of birth defects and the risks of the procedure.

The UPSL performs the following testing (please contact the PSL for specimen handling instructions):

Tests performed

  • First trimester screening (PAPP-A, hCG, nuchal translucency)
  • Quad screen (AFP, hCG, uE3, Inhibin-A)
  • Amniotic fluid AFP
  • Amniotic fluid AchE

Requisition forms

  • First Trimester Screening Requisition
  • Multiple Marker Screening Requisition

The Division of Molecular Diagnostics

The Division of Molecular Diagnostics is part of the Department of Pathology at UPMC. The division performs testing on a variety of sample types over a wide range of diseases. It offers 60 different tests and processes more than 25,000 samples each year in infectious diseases, genetics, and cancer diagnostics.

The UPMC Clinical Genomics Laboratory (UCGL)

The primary focus of the UCGL is working with healthcare providers and researchers to develop molecular tests that improve patient care and to translate new discoveries into clinical practice. Whether it is testing in pregnancy for cystic fibrosis or spinal muscular atrophy (SMA), pharmacogenetics testing for clopidogrel (Plavix) for patients undergoing a cardiac catheterization procedure, or disease-based gene panels for family or medical history of breast/ovarian cancer, the UCGL is prepared to meet our patient’s needs.

Our team of scientists and technologists are actively validating new tests to serve our patient population including Whole Exome Sequencing (WES) analysis using next generation sequencing (NGS) to be available in 2021.

Additional Resources